scholarly journals Association of ERCC5 Genetic Polymorphisms With Cirrhosis and Liver Cancer

2020 ◽  
Vol 19 ◽  
pp. 153303382094324 ◽  
Author(s):  
Gang Yang ◽  
Yuxia Yang ◽  
Xin Ma ◽  
Lijun Huang ◽  
Wenbin Li ◽  
...  

Introduction: To explore association of excision repair cross-complementing 5 ( ERCC5) genetic polymorphisms with cirrhosis and liver cancer. Methods: A total of 365 patients were enrolled, including control group (n = 133), cirrhosis group (n = 122), and liver cancer group (n = 110). The genotyping of ERCC5 rs2016073, rs751402, rs2094258, rs2296147, and rs2296148 was measured by using MassARRAY iPLEX technology. Results: There were no significant differences in gender and drinking among the 3 groups ( P > .05). There were significant differences among the 3 groups in both age-group ≤60 and >60 subgroup patients. Locus rs2016073 was significantly different among 3 groups, and genotype GG (n = 0) was not observed in liver cancer group. As for locus rs751402, there were significant differences among 3 groups, and genotype AA (n = 0) was not observed in liver cancer group. As for locus rs2094258, there were no significant differences among 3 groups. Locus rs2296147 showed no significant differences among 3 groups ( P > .05), but genotype CC was not observed in liver cancer group (n = 0). As for locus rs2296148, there were significant differences among 3 groups, and genotype TC (n = 0) was not observed in cirrhosis group. Regression analysis found locus rs751402 had significant difference between control group and cirrhosis group, patients with genotype AA and genotype GG were more likely to have cirrhosis than those with genotype GA. Conclusion: Our study suggested that genotype AA, genotype GG of ERCC5 locus rs751402, and genotype TC of locus rs2296148 may be important targets for cirrhosis, while ERCC5 polymorphisms (rs2016073 and ERCC5 polymorphisms, rs2016073 with genotype GG, and rs751402 with genotype AA) may be potential markers for liver cancer.

2020 ◽  
Vol 12 (2) ◽  
pp. 157-64
Author(s):  
Merlyna Savitri ◽  
Ugroseno Yudho Bintoro ◽  
Made Putra Sedana ◽  
Muhammad Noor Muhammad ◽  
Pradana Zaky Romadhon ◽  
...  

BACKGROUND: Carbohydrate antigens 15-3 (CA 15-3) is a conventional tumor marker in breast cancer, with low sensitivity and specificity. MicroRNA (miRNA)-21 showed its stability in circulation and could serve as powerful biomarker. The aim of this study was to evaluate miRNA-21 as breast cancer biomarker compared to CA 15-3 in Indonesian population.METHODS: Circulating plasma miRNA-21 expression was measured using qRT-PCR in 49 patients at various stages of breast cancer and 16 healthy controls. The relative expression value of miRNA-21 was calculated using 2-ΔΔCt. Meanwhile, CA 15-3 was quantified using electrochemiluminescence immunoassay (ECLIA) methods. The results of miRNA-21 and CA 15-3 plasma circulating expression were compared with controls at each stage and between stages of breast cancer.RESULTS: CA 15-3 median level in breast cancer group was 1.60 times higher compared to control group (p=0.019), 21.00 m/mL and 13.05 m/mL, respectively. Median miRNA-21 expression in breast cancer group was elevated 4.92 folds compared to control group (p=0.001), 4.43 and 0.90, respectively. There was no significant difference of CA 15-3 level between controls and all stages of breast cancer group. CA 15-3 cut-off value was 15.05 m/mL (p=0.016) with 59.2% sensitivity and 62.5% specificity. Meanwhile, there was a significant difference of miRNA-21 expression between controls and most stages of breast cancer group. Circulating miRNA-21 expression cut-off value was 2.07 (p=0.000) with 91.8% sensitivity and 87.5% specificity.CONCLUSION: Circulating miRNA-21 expression and CA 15-3 levels were significantly increased in breast cancer group compared to control group. The miRNA-21 expression increased consistently with breast cancer stage progression. miRNA-21 could serve as superior biomarker compared to CA 15-3.KEYWORDS: biomarker, breast cancer, circulating plasma, liquid biopsy, miRNA-21


Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Hisaki Makimoto ◽  
Katsuhito Fujiu ◽  
Kohei Shimizu ◽  
Eisuke Amiya ◽  
Kazuo Asada ◽  
...  

Introduction: Autonomic dysfunction is well known in patients with chronic kidney disease (CKD) and linked with cardiac death. In spite of a high incidence of morning death in CKD patients, circadian fluctuation in parasympathetic activation have not been studied in CKD. Hypothesis: We assessed the hypothesis that the cardiac autonomic circadian fluctuation is impaired in patients with CKD. Methods: The study population consisted of consecutive 101 patients (54 males, 70±10 years old) with CKD who underwent 24-hour Holter monitor. As a control group, 134 age and sex matched cases (66 males, 68±10 years old) without CKD who also underwent Holter monitor were recruited. Patients with diabetes orβ-blocker therapy were excluded. The high frequency component (HF), which reflected parasympathetic activity, and the low frequency to high frequency ratio (L/H ratio), which reflected, in part, sympathetic activity, were evaluated. To evaluate the contribution of CKD and other parameters to the cardiac autonomic fluctuation, the night (6PM-6AM) to day (6AM-6PM) ratio of HF and L/H ratio were analyzed utilizing a regression analysis. Results: The L/H ratio showed no significant difference during the night between the two groups, in contrast to the significant difference during the daytime. Patients with CKD showed significantly lower HF during the night as compared to control cases (P<0.05), although the daytime HF was not significantly different between the groups (Figure). Multivariate regression analysis demonstrated that CKD was independently associated with a lower night-to-day ratio of the HF and a higher night-to-day ratio of the L/H ration, even with the adjustment of age and comorbid hypertension. Conclusions: Our findings suggest that cardiac autonomic fluctuation is impaired in CKD patients. Whether a deterioration of autonomic activation might explain the high incidence of morning death in CKD patients needs to be clarified in future studies.


2004 ◽  
Vol 19 (3) ◽  
pp. 196-202
Author(s):  
B. Kayhan ◽  
B. Kayhan ◽  
M. Akdoğ;an

Background Pancreatic cancer is characterized initially by non-specific abdominal symptoms followed by rapid tumor progression. Although chronic pancreatitis is a benign disorder, it can be one of the causative factors of pancreatic cancer. The level of the tumor marker carbohydrate antigen 19–9 (CA 19–9) in pancreatic cancer does not correlate with the stage of the neoplasm. Soluble interleukin 2 receptor (sIL-2R) is a cytokine that shows increased levels during some inflammatory processes and malignant disorders. Aim Our aim in this study was to investigate whether sIL-2Rα levels can be used in association with CA 19–9 in the early diagnosis of pancreatic cancer and chronic pancreatitis. Patients Serum samples were obtained from the blood of 21 pancreatic cancer patients without distant metastasis who were deemed inoperable, 16 chronic pancreatitis patients and 20 normal volunteers. Results We did not find any significant differences in CA 19–9 levels between normal controls and patients with chronic pancreatitis. There was a significant difference in the levels between the control group and the pancreatic cancer group (p=0.003) and between patients with chronic pancreatitis and those with pancreatic cancer (p=0.004). Although there was no significant difference in sIL-2Rα levels between the control group and the patient groups, we found a slight correlation between sIL-2Rα and CA 19–9 levels in the pancreatic cancer group (p=0.003, r=0.623) and a more marked correlation in the chronic pancreatitis group (p<0.01, r=0.751). Conclusion According to our results, sIL-2Rα alone is not a good candidate marker in the diagnosis of pancreatic cancer; it can, however, be used in association with CA 19–9 for this purpose.


2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Laure Dix ◽  
Matthias Roth-Kleiner ◽  
Maria-Chiara Osterheld

Necrotizing enterocolitis (NEC) is a severe neonatal disease affecting particularly preterm infants. Its exact pathogenesis still remains unknown. In this study, we have compared the prevalence of vascular obstructive lesions in placentae of premature newborns which developed NEC and of a control group. We further compared separately the findings of placentae of infants of less than 30 weeks of gestation, the age group in which NEC occurs most frequently. We found signs of fetal vascular obstructive lesions in 65% of the placentae of preterm patients developing NEC, compared to only 17% of the placentae of preterm patients in the control group. In the age groups below 30 weeks of gestation, 58.5% of placentae of later NEC patients presented such lesions compared to 24.5% in the control group. The significant difference between NEC and control group suggests a strong association between fetal vascular obstructive lesions and NEC. Therefore, we propose that fetal vascular obstructive lesions might be considered as a risk factor for the development of NEC in premature infants.


2015 ◽  
Vol 49 (1) ◽  
pp. 65-70 ◽  
Author(s):  
Anita Fekonja ◽  
Andrej Cretnik ◽  
Danijel Zerdoner ◽  
Iztok Takac

Abstract Background. Ovarian cancer is usually diagnosed in an advanced stage and the present clinical and diagnostic molecular markers for early OC screening are insufficient. The aim of this study was to identify potential relationship between the hypodontia and epithelial ovarian cancer (EOC). Patients and methods. A retrospective study was conducted on 120 patients with EOC treated at the Department of Gynaecologic and Breast Oncology at the University Clinical Centre and 120 gynaecological healthy women (control group) of the same mean age. Women in both groups were reviewed for the presence of hypodontia and the patients with EOC also for clinicopathological characteristics of EOC according to hypodontia phenotype. Results. Hypodontia was diagnosed in 23 (19.2%) of patients with EOC and 8 (6.7%) controls (p = 0.004; odds ratio [OR] = 3.32; confidence interval [CI], 1.42-7.76). There was no statistically significant difference in patients with EOC with or without hypodontia regarding histological subtype (p = 0.220); they differed in regard to FIGO stage (p = 0.014; OR =3.26; CI, 1.23-8.64) and tumour differentiation grade (p = 0.042; OR = 3.1; CI, 1.01-9.53). Also, bilateral occurrence of EOC was more common than unilateral occurrence in women with hypodontia (p = 0.021; OR = 2.9; CI, 1.15-7.36). We also found statistically significant difference between the ovarian cancer group and control group in presence of other malignant tumours in subjects (p < 0.001). Conclusions. The results of the study suggest a statistical association between EOC and hypodontia phenotype. Hypodontia might serve as a risk factor for EOC detection.


Endocrine ◽  
2021 ◽  
Author(s):  
Francesco Mozzanica ◽  
Anna Ferrulli ◽  
Stela Vujosevic ◽  
Alessandro Montuori ◽  
Arianna Cardella ◽  
...  

Abstract Purpose Scarce information on the prevalence and characteristics of olfactory disfunction (OD) in type 2 diabetic (T2D) patients are available. The aims of this study were (1) to assess the olfactory function in T2D patients and to compare it with a control group of individuals without T2D, and (2) to evaluate the differences in OD within T2D patients according to the presence of diabetic complications. Methods A group of 39 T2D patients and a control group of 39 healthy individuals were enrolled. Each subject underwent an evaluation of the olfactory performance using the Sniffing Olfactory Screening Test (SOST) and completed a questionnaire assessing the subjective perception of olfaction. According to the presence of diabetic complications, the group of T2D patients was divided into two subgroups. Non-parametric tests and regression analysis were used for statistical analysis. Results No differences in the subjective perception of olfaction were demonstrated among T2D patients (with and without complications) and controls. A significant difference for the SOST score was demonstrated among the different groups. In particular, OD was more frequent in T2D patients than in controls. In addition, OD was far more frequent in T2D patients with complications. Regression analysis did not demonstrate any significant association between OD and clinical/demographic characteristics of T2D patients. Conclusion T2D patients were more frequently affected by OD. The subgroup analysis suggested a possible relationship between OD and diabetic complications since patients with T2D diabetic complications demonstrated lower olfactory abilities than controls subjects and T2D patients without diabetic complications.


2021 ◽  
Author(s):  
F Von Matthey ◽  
Johannes Weber ◽  
Michael Müller ◽  
Peter Biberthaler ◽  
Helen Abel

Abstract Background: Although distal radius fractures (DRF) are the most common fractures of the human body there is still no consensus concerning the best treatment option, especially for type A fractures. Moreover, studies concerning other anatomic regions could prove that patient age is of high impact on therapy and outcome. Therefore, we have quantified wrist function within a retrospective study design using PROM and we have analysed the influence of age between control and patient collective and young versus old, respectively.Patients and Methods: The retrospective study included all patients with a surgically treated DRF type A and a control group of healthy patients, age and gender matched. The function of the wrist was examined with a self-assessment questionnaire the Munich Wrist Questionnaire (MWQ) according to the patient related outcome measurements (PROM). Results: PROM was answered by 110 patients with DRF type A. The average follow-up was 66 months. 110 healthy wrists were the control group and subgroup matching induced similar age group distribution. Hence, 7 individuals < 30 years, 67 between 31 and 64 years, 29 control individuals between 65 and 79 years and 7 control individuals > 80 years, respectively. Women were significantly older than the men (59±15 vs. 47±17).In overall analysis, there was no significant difference between control and patient group (96±6 vs. 95±7). Function was significantly different between control and patient group < 30 years (100±1 vs. 98±2). In the control group the function was significantly decreasing with advanced aging whereas in the patient group this influence was absent. The difference between age group <30 and 65-79 and >80 and between 30-64 and 65-79 and >80 was significantly different with increasing age. Conclusion: PROM is a suitable tool for a retrospective study design as numerous patients can be analysed. The influence of age is critical for wrist function. Hence, we therefore strongly suggest that this information should be taken into consideration for future study plans.


2021 ◽  
Vol 11 ◽  
Author(s):  
Xiaoxin Hu ◽  
Luan Jiang ◽  
Chao You ◽  
Yajia Gu

ObjectivesTo evaluate the association of breast cancer with both the background parenchymal enhancement intensity and volume (BPEI and BPEV, respectively) and the amount of fibroglandular tissue (FGT) using an automatic quantitative assessment method in breast magnetic resonance imaging (MRI).Materials and MethodsAmong 17,274 women who underwent breast MRI, 132 normal women (control group), 132 women with benign breast lesions (benign group), and 132 women with breast cancer (cancer group) were randomly selected and matched by age and menopausal status. The area under the receiver operating characteristic curve (AUC) was compared in Cancer vs Control and Cancer vs Benign groups to assess the discriminative ability of BPEI, BPEV and FGT.ResultsCompared with the control groups, the cancer group showed a significant difference in BPEV with a maximum AUC of 0.715 and 0.684 for patients in premenopausal and postmenopausal subgroup, respectively. And the cancer group showed a significant difference in BPEV with a maximum AUC of 0.622 and 0.633 for patients in premenopausal and postmenopausal subgroup, respectively, when compared with the benign group. FGT showed no significant difference when breast cancer group was compared with normal control and benign lesion group, respectively. Compared with the control groups, BPEI showed a slight difference in the cancer group. Compared with the benign group, no significant difference was seen in cancer group.ConclusionIncreased BPEV is correlated with a high risk of breast cancer While FGT is not.


2020 ◽  
Vol 20 (2) ◽  
pp. 467-471
Author(s):  
Kaio Raffael Valotta Bezerra ◽  
Sarah Cristina Sato Vaz Tanaka ◽  
Vanessa Resende Souza Silva ◽  
Marina Carvalho Paschoinni ◽  
Roseane Lopes da Silva Grecco ◽  
...  

Abstract Objectives: the present study aimed to evaluate the association between the rs1799998 polymorphism of the CYP11B2 gene and the susceptibility to preeclampsia (PE) in a Brazilian population. Methods: the study group comprised 61 women who were diagnosed with PE. The control group included 116 women who did not show changes in their blood pressure levels during their pregnancies. The rs1799998 polymorphism of the CYP11B2 gene was amplified by allele-specific polymerase chain reaction (PCR). A multiple logistic regression analysis was performed using the SNPStat program to evaluate the risk of the CYP11B2 gene rs1799998 polymorphism contributing to PE. Results: the PE group had the following genotypes: 1.64% CC, 91.80% CT, and 6.56% TT. In the control group, the observed genotypic frequencies were: 11% CC, 73% CT, and 16% TT. The genotypic frequency distribution did not fit the Hardy Weinberg Equilibrium (HWE) in either study group. The multiple logistic regression analysis showed a statistically significant difference for the rs1799998 polymorphism in the recessive model. Conclusion: the results suggest an association between the recessive model of C/C genotype of the rs1799998 polymorphism of the CYP11B2 gene and susceptibility to PE.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Himri Sara ◽  
Oumokhtar Bouchra ◽  
El Fakir Samira ◽  
Atmani Samir

Abstract Background The assay of antistreptolysin O antibodies “ASLO” can provide evidence of infection of streptococcal origin, but it cannot confirm the presence of rheumatic fever “RAA” or the degree of severity of the disease. However, it is widely prescribed in daily practice by pediatricians and general practitioners to diagnose RAA. Unfortunately, the only finding of a high rate of ASLO in front of recurrent tonsillitis in children is considered by some practitioners as sufficient evidence to support the diagnosis of RAA, especially in its minor form, without taking into account the Jones criteria. The objective of this study is to put the ASLO assay in its place in the diagnosis of RAA in children in the region of Fez in Morocco. Methods This is a prospective study carried out from January 2016 to July 2019 in the cardiopediatric unit of CHU Hassan II in Fez. Patients below 18 years of age were included in this study. The children are classified into 4 groups: group 1: RAA with cardiac involvement, group 2: RAA without cardiac involvement, group 3: recurrent pharyngitis and group 4: control. Children with RAA are diagnosed according to the modified Jones criteria. The repetitive angina group includes any child who has tonsillitis &gt;5 times a year. The control group presents healthy children. The ASLO assay was carried out in the central analysis laboratory of the CHU Hassan II in Fez. Patient data is collected on operating sheets. Statistical analysis was performed using SPSS v 21 software. Results These are 153 children with RAA: 119 cases of RAA with cardiac involvement and 34 cases of RAA without cardiac involvement, 86 children with recurrent pharyngitis and 157 children controls. The most common age group in the four groups is the age group between 5 and 15 years old. The frequency of children of urban origin is greater than that of rural origin in all the groups studied. The average ASLO rates in each group are as follows: RAA with carditis: 281.1 IU/ml RAA without carditis: 331.9 IU/ml Repeated angina: 397.7 IU/ml Control: 208.8 IU/ml Monitoring the change in ASLO, every 3 months for a year, in the groups studied showed that the ASLO level is stable at high rates in the case of recurrent pharyngitis and it tends to decrease in the case of AAR. Regarding the relationship between ASLO means and gender, there is a high ASLO mean in boys more than girls in all groups. Also, the mean ASLO is high in children from urban areas for the recurrent angina group. In addition, the average rate of ASLO is high during cold seasons in all groups. Finally, our study shows that the increase in ASLO is related to age. There is a significant difference between ASLO rates and age in all groups. Conclusion ASLO levels do not correlate with cardiac involvement but rather with infection and the child's individual immunity. The evidence is that ASLO levels&gt; 200 IU/ml are more common with recurrent pharyngitis than with rheumatic heart disease. So a high ASLO is not necessarily related to an RAA. Keywords ASLO, children, RAA, recurrent tonsillitis


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